ID   GM08771
AC   CVCL_9Z45
DR   CLO; CLO_0010498
DR   BioSample; SAMN00798182
DR   Coriell; GM08771
DR   Wikidata; Q54843287
RX   CelloPub=CLPUB00447;
RX   PubMed=12851857;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 22965; PEX26; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000002156; Zygosity=Heterozygous (PubMed=12851857).
CC   Sequence variation: Mutation; HGNC; 22965; PEX26; Simple; p.Leu45Pro (c.134T>C); ClinVar=VCV000002157; Zygosity=Heterozygous (PubMed=12851857).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C155761; Peroxisome biogenesis disorder 7B
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=12851857; DOI=10.1086/377004;
RA   Matsumoto N., Tamura S., Furuki S., Miyata N., Moser A., Shimozawa N.,
RA   Moser H.W., Suzuki Y., Kondo N., Fujiki Y.;
RT   "Mutations in novel peroxin gene PEX26 that cause
RT   peroxisome-biogenesis disorders of complementation group 8 provide a
RT   genotype-phenotype correlation.";
RL   Am. J. Hum. Genet. 73:233-246(2003).
//